Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.

Metabolic Rigidity as a Mechanical Barrier to Malaria: Flickering Loss in PKLR-Deficient Erythrocytes.

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK/HK Ratio.

Efficacy and safety of pyruvate kinase activator in treating hemolytic anemias: a systematic review.

Long-term efficacy and safety of mitapivat in non-transfusion-dependent α- or β-thalassaemia: An open-label phase 2 study.

Red Blood Cell Disorders in Newborns: Bridging Traditional and Modern Diagnostics.

Hereditary disorders of ineffective erythropoiesis.

Ovarian tissue cryopreservation for a girl with combined severe hemolytic anemia due to pyruvate kinase deficiency: a case report and literature review.

10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency.

[Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency].

The Efficacy of Mitapivat in Case of Transfusion Dependence Linked to Beta Thalassemia Trait Associated with Pyruvate Kinase Deficiency.

Mitapivat for Acquired Pyruvate Kinase Deficiency.

How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol.

Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.

Mitapivat-Associated Rib Fracture in a Hemolytic Anemia Patient.

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis.

Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.

Mitapivat improves ineffective erythropoiesis and iron overload in adult patients with pyruvate kinase deficiency.

Recent developments in the use of pyruvate kinase activators as a new approach for treating sickle cell disease.

Differential Gene Expression of Malaria Parasite in Response to Red Blood Cell-Specific Glycolytic Intermediate 2,3-Diphosphoglycerate (2,3-DPG).

Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.

Clonal hematopoiesis and acquired genetic abnormalities of the red cell: An historical review.

Mitapivat: A Quinolone Sulfonamide to Manage Hemolytic Anemia in Adults With Pyruvate Kinase Deficiency.

Oxidative Stress in Healthy and Pathological Red Blood Cells.

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.

Mitapivat: A Novel Treatment of Hemolytic Anemia in Adults with Pyruvate Kinase Deficiency.

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.

Updates and advances in pyruvate kinase deficiency.

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency.

Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.

Mitapivat for sickle cell disease and thalassemia.

2,3-Diphosphoglycerate and the Protective Effect of Pyruvate Kinase Deficiency against Malaria Infection-Exploring the Role of the Red Blood Cell Membrane.

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency.

Prenatal management of fetal anemia due to pyruvate kinase deficiency: A case report.

[Congenital hemolytic anemias due to erythrocyte membrane and enzyme defects].

An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency.

Mitapivat for treatment of pyruvate kinase deficiency.

Pyruvate kinase deficiency: clinical expression and new therapies.

Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.

Mitapivat versus Placebo for Pyruvate Kinase Deficiency.

Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

Haemoglobin Bristol-Alesha in a child with non-spherocytic severe haemolytic anaemia and marked anisochromic poikilocytosis with basophilic stippling and amorphous intracellular content.

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.

Red Blood Cell Metabolism in Pyruvate Kinase Deficient Patients.

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues.

Preclinical studies of efficacy thresholds and tolerability of a clinically ready lentiviral vector for pyruvate kinase deficiency treatment.

Clinically relevant gene editing in hematopoietic stem cells for the treatment of pyruvate kinase deficiency.

Putative pathogen-selected polymorphisms in the PKLR gene are associated with mycobacterial susceptibility in Brazilian and African populations.

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report.

Molecular genetic testing enabled the diagnosis of otherwise undiagnosable cases of pyruvate kinase deficiency.

A pyruvate kinase deficiency child with novel PK-LR gene mutations was successfully cured by matched unrelated donor peripheral blood stem cell transplantation.

Pyruvate kinase deficiency in children.

Improving the laboratory diagnosis of pyruvate kinase deficiency.

Decreased activity and stability of pyruvate kinase in sickle cell disease: a novel target for mitapivat therapy.

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency.

Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.

Comorbidities and complications in adults with pyruvate kinase deficiency.

A Family Affected by a Life-Threatening Erythrocyte Defect Caused by Pyruvate Kinase Deficiency With Normal Iron Status: A Case Report.

The variable manifestations of disease in pyruvate kinase deficiency and their management.

Molecular heterogeneity of pyruvate kinase deficiency.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study.

Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin.

Management of pyruvate kinase deficiency in children and adults.

Congenital Hemolytic Anemias: Is There a Role for the Immune System?

Rapid diagnosis of hereditary haemolytic anaemias using automated rheoscopy and supervised machine learning.

Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusiondependent pyruvate kinase deficiency anemia.

The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.

Development of an Automated Enzymatic Method to Quantify Pyruvate Kinase in Red Blood Cells.

Next-Generation Sequencing-Based Diagnosis of Unexplained Inherited Hemolytic Anemias Reveals Wide Genetic and Phenotypic Heterogeneity.

Laboratory Approach to Hemolytic Anemia.

Hepcidin and Anemia: A Tight Relationship.

[Case report of a family with erythrocyte pyruvate kinase deficiency].

Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency.

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.

Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases.

How we manage patients with pyruvate kinase deficiency.

Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency.

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

[How I do in front of an hemolytic anemia of unknown etiology?].

Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters.

Phase 1 Single- and Multiple-Ascending-Dose Randomized Studies of the Safety, Pharmacokinetics, and Pharmacodynamics of AG-348, a First-in-Class Allosteric Activator of Pyruvate Kinase R, in Healthy Volunteers.

[The clinical and laboratory characteristics of congenital pyruvate kinase deficiency].

A Case Report of Congenital Non-spherocytic Hemolytic Anemia in a Patient from India.

Red Blood Cell Enzyme Disorders.

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Function and dysfunction.

Novel mutations associated with pyruvate kinase deficiency in Brazil.

Newborn Screening for Hemoglobinopathies and Red Cell Enzymopathies in Tripura State: A Malaria-Endemic State in Northeast India.

A novel PKLR gene mutation identified using advanced molecular techniques.

A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat.

Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency.

Digital microscopy as a screening tool for the diagnosis of hereditary hemolytic anemia.

Persistent Hemolysis after Laparoscopic Partial Splenectomy in Children.

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria.

[Haematopoietic stem cell transplantation in pyruvate kinase deficiency: When is it indicated?].

Residual pyruvate kinase activity in PKLR-deficient erythroid precursors of a patient suffering from severe haemolytic anaemia.

Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPIc.1040G>A (p.Arg347His) causing hemolysis in an Indian infant.

Congenital Hemolytic Anemia.

Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.

Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.

Cord blood transplantation in a young child with pyruvate kinase deficiency.

Tanaka KR, Valentine WN, Miwa S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood. 1962;19(3):267-295.

Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.

Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants.

Red blood cell PK deficiency: An update of PK-LR gene mutation database.

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Erythrocyte pyruvate kinase deficiency: 2015 status report.

Western immunoblotting as a new tool for investigating direct antiglobulin test-negative autoimmune hemolytic anemias.